Related Experiment Videos
[Screening for DiGeorge syndrome and other genetic diseases]
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
European journal of human genetics : EJHG·2025
Negotiating clinical practice guidelines: Doctors' experiences with implementing and rationing high-cost cystic fibrosis treatment.
Social science & medicine (1982)·2025
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
European journal of human genetics : EJHG·2024
Comparison of the ABC and ACMG systems for variant classification.
European journal of human genetics : EJHG·2024
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain : a journal of neurology·2023
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Nature communications·2023
Perspectives on the use of coercion in highly specialised rehabilitation: a focus group study.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Occupational injuries treated at Oslo A&E - a prospective study.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Cross-reactivity in cashew nut allergy.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Calbindin stratifies midbrain dopaminergic neurons governing distinct aspects of locomotion.
Proceedings of the National Academy of Sciences of the United States of America·2026
Exploring the Causal Relationship Between Sex Hormones and Depression by Means of Two-Sample Mendelian Randomization Analysis.
Actas espanolas de psiquiatria·2026
Generation of 5 induced pluripotent stem cell lines with copy number variations in 22q11.2.
Stem cell research·2026